A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea
- Title
- A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea
- Author
- 유희준
- Keywords
- Mal de Meleda; Palmoplantar keratoderma; Transgrediens; SLURP-1; PALMOPLANTAR KERATODERMAS
- Issue Date
- 2011-08
- Publisher
- KOREAN DERMATOLOGICAL ASSOC, 305 SEOCHO NASAN, SUITE OFFICE 1330-16, SEOCHO-2-DONG, SEOCHO-GU, SEOUL, 137-858, SOUTH KOREA
- Citation
- Annals of Dermatology,Vol.23 No.3 [2011],396-399(4쪽)
- Abstract
- Mal de Meleda (MDM), also known as keratoderma palmoplantaris transgrediens, is a rare inherited form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands and feet. A 15-year-old Korean female presented with sharply demarcated hyperkeratotic plaques on the palms and soles, which extended to the dorsal surfaces of the hands and feet, in a "glove-and-socks" distribution. The histopathologic study showed marked hyperkeratosis, acanthosis, and normogranulosis, without epidermolysis. Her genetic study detected compound heterozygous mutation in exon 3 of the ARS gene encoding SLURP-1. Family history did not reveal any other affected members and no consanguineous relationship was found. In view of these findings, we diagnosed this case as the first reported sporadic case of MDM in Korea, the farthest location from the endemic island of Meleda. (Ann Dermatol 23(3) 396 similar to 399, 2011)
- URI
- https://synapse.koreamed.org/DOIx.php?id=10.5021/ad.2011.23.3.396https://repository.hanyang.ac.kr/handle/20.500.11754/70468
- ISSN
- 1013-9087
- DOI
- 10.5021/ad.2011.23.3.396
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
- Files in This Item:
- ad-23-396.pdfDownload
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